Canonical Allele Identifier: CA666035867

Gene: ERCC6

Linked Data

• dbSNP Id: rs1250947986
• gnomAD v3: 10-49471067-CTT-C
• gnomAD v4: 10-49471067-CTT-C
• MyVariant Identifiers: chr10:g.50679114_50679115del (hg19) ; chr10:g.49471068_49471069del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471069_49471070del , CM000672.2:g.49471069_49471070del	GRCh38
NC_000010.10:g.50679115_50679116del , CM000672.1:g.50679115_50679116del	GRCh37
NC_000010.9:g.50349121_50349122del	NCBI36
NG_009442.1:g.73033_73034del , LRG_465:g.73033_73034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2976_2977del MANE Select	ENSP00000348089.5:p.Arg993AlafsTer7
ENST00000679552.1:n.142-180_142-179del
ENST00000679871.1:n.122_123del
ENST00000679974.1:n.120-180_120-179del
ENST00000681632.1:n.4379_4380del
ENST00000681659.1:c.2817_2818del	ENSP00000505631.1:p.Arg940AlafsTer7
ENST00000355832.9:c.2976_2977del	ENSP00000348089.5:p.Arg993AlafsTer7
ENST00000623073.3:c.*1272_*1273del	ENSP00000485650.1:n.*1272_*1273del
ENST00000623115.3:c.1086_1087del	ENSP00000485321.1:p.Arg363AlafsTer7
ENST00000624341.3:c.808_809del
NM_000124.3:c.2976_2977del	NP_000115.1:p.Arg993AlafsTer7
XR_945953.1:n.243-496_243-495del
NM_001346440.1:c.2976_2977del	NP_001333369.1:p.Arg993AlafsTer7
NM_000124.4:c.2976_2977del MANE Select	NP_000115.1:p.Arg993AlafsTer7
NM_001346440.2:c.2976_2977del	NP_001333369.1:p.Arg993AlafsTer7